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. 2018 Oct 1;26(Suppl 1):113–819. doi: 10.1038/s41431-018-0247-7
46, XY DSD 46, XX DSD
Disorders of Testicular Development Disorders of Hormone synthesis or action Disorders of Ovarian Development Androgen Excess
WT1 (11p13) DHCR7 (11q12-q13) SRY (Yp11.3) HSD3B2 (1p13)
CBX2(17q25) LHCGR (2p21) SOX9 (17q24) POR (7q11.2)
NR5A1/SF1 (9q33) StAR (8p11.2) RSPO1 (1p34.3) CYP11B1 (8q21-q22)
SRY (YP11.3) CYP11A1 (15q23-24) WNT4 (1p35) CYP19A1 (15q21)
SOX9 (17q24-q25) HSD3B2 (1p13.1) Glucocorticoid receptor (5q31)
DHH (12q13.1) CYP17A1 (10q24.3) Table listing the genes covered by our panel.
ARX (Xp22.13) POR (7q11.2)
TSPYL1 (6q22-23) CYB5A (18q23)
MAMLD1 (Xq28) HSD17B3 (9q22)
DMRT1 (9p24.3) SRD5A2 (2p23)
ATRX (Xq13.3) AR (Xq11-q12)
NR0B1/DAX1 (Xp21.3) AMH (19p13.3-p13.2)
WNT4 (1p35) AMHR2 (12q13)